ONTOLOGY REPORT - ANNOTATIONS


Term:Frasier syndrome
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Accession:DOID:0050438 term browser browse the term
Definition:A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.
Synonyms:primary_id: MESH:D052159
 alt_id: OMIM:136680;   RDO:0007590
 xref: GARD:2375
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Frasier syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:7240710
RGD:8554872

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Path 1
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  disease 14875
    syndrome 4220
      Frasier syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      Urogenital Diseases 3874
        urinary system disease 2009
          kidney disease 1805
            kidney failure 454
              chronic kidney disease 211
                end stage renal failure 176
                  Frasier syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.